CHONDRO ECTODERMAL DYSPLASIA - CPA Chennai

CHONDRO ECTODERMAL

DYSPLASIA

Dr.M.Vinodh , M.D, Post Graduate

Dr. Amutha Rajeshwari, M.D., D.C.h

Dr. Sujatha Sridharan M.D.,D.C.H

Dr. Aravind M.D.,D.C.H

Dept of Pediatrics

Govt Stanley Medical college

Case history

8 years old

born of 2nd degree consanguineous marriage male child

admitted with complaints of fever- 3 days, high grade,

associated with chills and rigor, Intermittent fever with

no history of vomiting, loose stools, abdominal pain, or

any swellings.

Child was not admitted in the past for any other illness.

Antenatal, birth and neonatal history was not significant.

No other significant history

On Examination

General examination: Comfortable,

no pallor/icterus/cyanosis/clubbing/pedal edema

Vitals PR – 102/min regular ,good volume, felt in all peripheral

pulses, no radio-radial/radio-femoral delay, no pulse

deficit.

RR- 24/min

Bp- 100/70 mm hg

Examination

Anthropometry: Ht: 102 cms against 125 cms

(81.6%)

Wt 18.5 kg against 24 kg

(77.08%)

Hc-49 cms

US : LS ratio- 1.25:1

Arm span 97 cms.

Defect in upper lip

dental anomalies- absence of both upper and lower

incissors

Short limbs

Post axial polydactyl

Short stubby fingers.

Nails were hypoplastic

P/a - spleen 3 cms below left costal margin. Firm.

CVS- fixed split S2

RS- NVBS, BAE

CNS- NFND

Dental anomalies

Lip anomalies

Dysplastic nails and polydactyl

Short stubby fingers

Investigation

CBC- normal

QBC for MP – positive

urine R/E- Normal

X-Ray- chest- high clavicle,

Lower limbs- shortening of tibia and fibula compared to femur, spur in tibia,widened

tibial shaft.

Wrist- fusion of capitates and hamate

Skull- dentigerious cyst

ECHO- ASD with cleft in anterior mitral leaflet

USG abdomen- splenomegaly

Radiology- lower limbs

X-ray wrist

X-ray skull

Exostosis

Discussion

Ellis and van-Creveld described in 1940

Prevalence: occurs1 in 60000-200000 live births.

Most common in Amish community in Lancaster

County, Pennsylvania.

Its fairly very rare in general population

Genetics: autosomal recessive trait

mutation have been identified in one of the two genes,

EVC and EVC2 which may be very close to each other

on chromosome 4p

function of this gene products is unknown.

Discussion Growth: short stature of prenatal onset.

Skeletal:

disproportionate, irregular short extremities, polydactyl of the fingers occasionally toes,

small broad middle phalanges and hypoplastic distal phalanges,

malformed carpals, fusion of capitate and hamate, extra carpal bones

narrow thorax with short poorly developed ribs

hypoplasia of upper lateral tibia with knock knees

pelvic dysplasia with low iliac wings and spur like projection at med and lat aspects of acetabula.

exostosis projecting distally from medial aspect of proximal tibial metaphysis

Discussion

Nails: hypoplastic

Teeth: neonatal teeth, partial anodontia, small teeth

Mouth: defects in alveolar ridge with accessory frenula

Cardiac: approx 60% have cardiac defects,

m/c ASD often with single atrium

Prognosis

About 30% of patients die of cardiac or respiratory

problems during infancy

Life span is otherwise normal.

Adult height ranges from 109-152 cms

References

Nelson text book of pediatrics- 18th edition

Smith book on congenital anomalies

Caffey ‘s text book of radiology

Lead consultant : Dr. Amutha Rajeshwari M.D., D.C.H

ph: 9843112976

e mail- amutha21154@ymail.com